| Variant ID | 11313 |
|---|---|
| Entrez Gene ID | 4885 |
| Gene | NPTX2 (GeneCards) |
| Location | hg19 7:98275942-98275942
hg38 7:98646630-98646630 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.98275942 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3886 |
| CADD Raw score (version 1.3) | 1.106983 (Deleterious) |
| FATHMM raw prediction score | 0.77676 (Tolerated) |
| Deleterious probability by DeFine | 0.5753 (Deleterious) |
| Entrez Gene ID | 4885 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NPTX2 (GeneCards) |
| Number of variants in NPTX2 in this database | 6 (view all the variants) |
| Full name | neuronal pentraxin 2 |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000154369 OMIM: 600750 HGNC: HGNC:7953 Ensembl: ENSG00000106236 |
| Other names | NP2, NARP, NP-II |
| Summary | This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009] |
| Individual ID | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |